Hereditary foveal hypoplasia - Clinical differentiation;Familiäre foveahypoplasie - Klinische einordnung

Klinische Monatsblatter fur Augenheilkunde

Volumn 220, Issue 8, 2003, Pages 559-562

  Schroeder, Hans Wolfgang ^a,c   Orth, Ulrike ^d   Meyer König, Eberhard ^b   Gal, Andreas ^d  

^a Klinikum Nord   (Germany)

^b Neurologische Abt Klinikum Nord   (Germany)

^c Klinikum Nord   (Germany)

^d NONE

Author keywords

Foveal aplasia; Foveal hypoplasia, hereditary, isolated; PAX6 mutation; Visual pathway abnormality

Indexed keywords

ADENINE; THYMIDINE; TRANSCRIPTION FACTOR PAX6;

ADULT; ALBINISM; ANIRIDIA; ARTICLE; CATARACT; CLINICAL ARTICLE; CONTROLLED STUDY; CONVERGENT STRABISMUS; DISEASE ASSOCIATION; EVOKED VISUAL RESPONSE; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPOPLASIA; INTRON; IRIS COLOBOMA; MALE; PHYSICAL EXAMINATION; RETINA FOVEA; SYMPTOMATOLOGY; VISION; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; AGED; ALBINISM, OCULAR; ANIRIDIA; CATARACT; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ESOTROPIA; EVOKED POTENTIALS, VISUAL; EYE ABNORMALITIES; EYE PROTEINS; FEMALE; FOVEA CENTRALIS; GENES, DOMINANT; HETEROZYGOTE DETECTION; HOMEODOMAIN PROTEINS; HUMANS; INTRONS; MALE; MIDDLE AGED; OCCIPITAL LOBE; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; TRANSLOCATION, GENETIC; VISION, LOW;

EID: 0141481132     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-41874     Document Type: Article

References (15)

1. Azuma N, Yamaguchi Y, Handa H, Hayakawa M, Kanai A, Yamada M. Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies. Am J Hum Genet 1999; 65: 656-663
2. Azuma N, Hotta Y, Tanaka H, Yamada M. Missense mutation in the PAX6 gene in aniridia. Invest Ophthalmol Vis Sci 1998; 39: 2524-2528
3. Azuma N, Nishina S. PAX6 missense mutation in isolated foveal hypoplasia. Nat Gen 1996; 13: 141-142
4. Curran ER, Robb RM. Isolated foveal hypoplasia. Arch Ophthalmol 1976; 94: 48-50
5. Guo S, Reinecke RD, Fendick M, Calhoun JH. Visual pathway abnormalities in albinism and infantile nystagmus: VECPs an stereoacuity measurements. J Pediatr Ophthalmol Strabismus 1989; 26: 97-104
6. Human PAX6 allelic variant database 15.5.2002 http://www.hgu.mrc.ac.uk./Softdata/PAX6/Tables/Summary.htm
7. Lorenz B. Albinismus. Ophthalmologe 1997; 94: 534-544
8. Lorenz B. Kongenitaler Nystagmus. Z prakt Augenheikd 2000; 21: 397-404
9. Mietz H, Green WR, Wolff SM, Abundo GP. Foveal hypoplasia in complete oculocutaneous albinism. A histopathologic study. Retina 1992; 12: 254-260
10. Naumann GOH, Lerche W, Schroeder W. Fovea-Aplasie bei thyrosinase-positivem oculocutanen Albinismus. Graefes Arch Ophthalmol 1976; 200: 39-50
11. O'Donnell FE, Pappas R. Autosomal dominant foveal hypoplasia and presenile cataracts. Arch Ophthalmol 1982; 100: 279-281
12. Oliver MD, Dotan SA, Chemke J, Abraham FA. Isolated foveal hypoplasia. Br J Ophthalmol 1987; 71: 926-930
13. Schroeder HW. Beobachtungen an zwei Familien mit oculocutanem Albinismus: Unterschiedliche Ausprägung der Foveahypoplasie innerhalb der Familien bei konstanter VEP-Anomalie. 2003, unveröffentlicht
14. Summers CG, Oetting WS, King RA. Diagnosis of oculocutaneous albinism with molecular analysis. Am J Ophthalmol 1996; 121: 725-726
15. Wolf M, Zabel B, Lorenz B, Blankenagel A, Ghorbani MB, Schwenn O, Wildhardt G. Molekulargenetische Untersuchunq des PAX6-Gens bei Aniridie-Patienten. Ophthalmologe 1998; 95: 828-830